Variant (rsID / SNP)
rs200529020
rs200529020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOGA1. Location: chromosome 10, position 99,358,651. Clinical significance in the table: Likely pathogenic.
Reference-table entries
HOGA1Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:99358651
- Cytoband
- 10q24.2
- HGVS
- NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Primary hyperoxaluria type 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.